COL1A1, collagen type I alpha 1 chain, 1277
N. diseases: 218; N. variants: 266
Source: INFERRED ×
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 17 | 50195665 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 1989 | 2015 | ||||||||||
|
1.000 | 17 | 50195330 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 1989 | 2015 | ||||||||||
|
1.000 | 17 | 50188920 | missense variant | C/T | snv |
|
0.800 | 1.000 | 0 | 1989 | 2007 | ||||||||||
|
0.925 | 0.120 | 17 | 50186507 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 17 | 50185605 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 17 | 50186425 | missense variant | G/A;C | snv | 1.4E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 17 | 50191805 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 17 | 50190099 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.240 | 17 | 50196163 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.240 | 17 | 50191826 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 17 | 50190825 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.120 | 17 | 50190045 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 17 | 50186799 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.790 | 0.240 | 17 | 50196172 | missense variant | C/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 17 | 50195231 | splice donor variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 17 | 50192993 | splice donor variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 17 | 50197948 | splice donor variant | C/G;T | snv |
|
0.700 | 0 | |||||||||||||
|
0.790 | 0.240 | 17 | 50190578 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.240 | 17 | 50195288 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 17 | 50192825 | inframe deletion | GCC/- | del |
|
0.700 | 0 | |||||||||||||
|
0.752 | 0.240 | 17 | 50188908 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 |